Navigation Links
Origin of inherited pain disorder pinpointed

The genetic basis for a rare inherited disorder that causes severe burning pain with no warning has been pinpointed by researchers. They found that paroxysmal extreme pain disorder (PEPD) is caused by specific mutations in porelike sodium channels in peripheral nerve cells—a discovery that they said emphasizes the role of such channel disorders in inflammatory pain. Such findings of abnormal function in disease also provide insights into the normal function of such channels, they said.

R. Mark Gardiner, of University College London, and his colleagues published their findings in the December 7, 2006, issue of the journal Neuron, published by Cell Press.

So-called "voltage-gated sodium channels" are central to the neuron's ability to propagate a nerve impulse. In response to voltage changes in a nerve cell caused by a nerve impulse, these channels snap open, allowing sodium to flow across the cell membrane, further propagating the nerve impulse. Rapid, precise activation and inactivation is key to their normal operation.

In their studies, the researchers sought to understand the basis of PEPD, which is characterized by abrupt paroxysms of pain in the rectum, eye, and jaw. They first performed a detailed genetic comparison of affected and unaffected members of one large family that showed inheritance of the disease. That analysis revealed that mutations that compromise the gene for a component of one particular sodium channel, called SCN9A, were the likely culprit. Further analysis of the gene in 11 affected families and two sporadic cases, indeed, revealed that mutations in SCN9A are responsible for the disease in at least two-thirds of PEPD cases.

Analysis of these mutations revealed that they all disrupted the ability of the sodium channel to rapidly snap shut, prolonging activation of the peripheral nerves in which the channels functioned. What's more, the researchers found, the drug carbamazepine—known to be effective in PEPD—act
'"/>

Source:Cell Press


Page: 1 2

Related biology news :

1. International Team Determines Geographic Origin of Leprosy
2. New Look at DNA Hints at Origin of UV Damage
3. Stem Cells Found In Cerebellum; Possible Cell of Origin for Childhood Brain Tumors
4. Researchers Discover Ancient Origins Of Tuberculosis-causing Bacteria
5. Genetic therapy reverses nervous system damage in animal model of inherited human disease
6. Tendency to hair loss inherited from the mother
7. Gene therapy cures inherited liver disease in rats
8. Cell therapy slows progression of an inherited neurological disease; Improves motor skills in mice
9. Early-stage immune system control of HIV may depend on inherited factors
10. Association of herpesvirus with lung disorder questioned
11. Newly discovered virus linked to childhood lung disorders and Kawasaki disease
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Origin inherited pain disorder pinpointed

(Date:5/24/2013)... the immune system to combat metastatic cancer , ... destruction by the immune system. Stimulation of the immune ... are many factors that cause the immune system to ... that function to suppress the immune system response. In ... , researchers led by Ronald Levy at Stanford University ...
(Date:5/24/2013)... years, microRNAs (miRNAs) and other non-coding RNAs are ... specific proteins. In recent years they have emerged ... to establish tissue origin for cancers of unknown ... screen for disease, but clinically tractable, diagnostic methods ... not currently available. In this issue of the ...
(Date:5/24/2013)... scientists have focused among other factors on drugs ... is the accumulation of A-beta that causes the known plaques ... formation of A-beta is APP. Alessia Soldano and Bassem Hassan ... APPL the fruit-fly version of APP in the ... Leuven): "We have discovered that APPL ensures that brain cells ...
Breaking Biology News(10 mins):JCI early table of contents for May 24, 2013 2JCI early table of contents for May 24, 2013 3JCI early table of contents for May 24, 2013 4JCI early table of contents for May 24, 2013 5JCI early table of contents for May 24, 2013 6JCI early table of contents for May 24, 2013 7JCI early table of contents for May 24, 2013 8A new strategy required in the search for Alzheimer's drugs? 2
... its kind in Australia, medical scientists have been able for ... the front-line troops that alert our immune system to go ... bloodstream. The discovery overturns prevailing understanding, identifying the exact ... that could lead to treatments for a range of conditions ...
... Ottawa, Canada, June 2, 2011 The International Development Research ... Research (CIHR), the Natural Sciences and Engineering Research Council ... Research Council of Canada (SSHRC) today announce that five ... million dollars under the International Research Initiative on Adaptation ...
... one involving traditional health club sessions and the other delivered ... of weight and body fat, but the online contingent reported ... healthier and leaner lives. "It,s counter-intuitive, the idea ... activities that they do in a virtual world can carry ...
Cached Biology News:Scientists use super microscope to pinpoint body’s immunity 'switch' 2International research initiative on adaptation to climate change announces research awards 2International research initiative on adaptation to climate change announces research awards 3ACSM: Weight loss success in a 3-D virtual world 2
(Date:5/23/2013)... 23, 2013 Can economic incentives such ... motivate members of the public to increase their donations ... Johns Hopkins Carey Business School Assistant Professor Mario ... to a large body of recent research that supports ... 24, 2013, issue of Science that the World Health ...
(Date:5/23/2013)... , May 23, 2013  Rahal Letterman Lanigan ... human cord blood stem cell banking and therapeutics, announced ... the No. 16 Acorn Stairlifts Indy car driven by ... the remainder of the IZOD IndyCar 2013 season.   ... will work to support awareness of umbilical cord blood ...
(Date:5/23/2013)... May 23, 2013  Saddleback Memorial Medical Center in ... the first hospital on the West Coast to perform ... surgical option provides women with a state-of-the-art, minimally invasive ... Marc Winter , M.D., a highly regarded ... medical director of minimally invasive surgery at Saddleback Memorial, ...
(Date:5/23/2013)... Z Trim Holdings, Inc. (OTC Markets: ZTHO), ... of industries, announced that Chef Erin Ryan ... year,s National Restaurant Association ("NRA") NRA Show, which was ... Research Chefs Association.  Chef Ryan spoke on the subject ... and the Ugly," joining four other prestigious panelists including: ...
Breaking Biology Technology:Offering Economic Incentives to Attract Blood Donations Should Be Encouraged, Research Team writes in Science 2Offering Economic Incentives to Attract Blood Donations Should Be Encouraged, Research Team writes in Science 3StemCyte, Inc. Joins Rahal Letterman Lanigan Racing As Associate Sponsor Of No. 16 IndyCar Program For James Jakes Beginning With The 97th Indianapolis 500 2StemCyte, Inc. Joins Rahal Letterman Lanigan Racing As Associate Sponsor Of No. 16 IndyCar Program For James Jakes Beginning With The 97th Indianapolis 500 3Saddleback Memorial Surgeon First on the West Coast to Perform Single-Site Robotic Hysterectomy 2Saddleback Memorial Surgeon First on the West Coast to Perform Single-Site Robotic Hysterectomy 3Z Trim's Chef Erin Ryan sits on Expert Panel at NRA Show 2Z Trim's Chef Erin Ryan sits on Expert Panel at NRA Show 3
... HAIKOU CITY, China, Nov. 11 /PRNewswire-Asia-FirstCall/ -- China ... and,markets specialty pharmaceutical products in China, today announced financial,results for ... Third Quarter 2009 Financial Highlights, ... in the, third quarter ...
... HARBIN, China, Nov. 11 /PRNewswire-Asia-FirstCall/ -- ... "the Company") (Nasdaq: CSKI ), a,leading fully integrated ... China ("PRC"), today announced that it will,conduct a conference ... Tuesday,November 17, 2009, to discuss its third quarter 2009 ...
... US Oncology, Inc . announced that ... will be departing from the Company, effective November 30, 2009. ... a long and rich history with US Oncology. Beginning in ... consultation as an outside attorney before joining the Company in ...
Cached Biology Technology:China Pharma Holdings, Inc. Reports Third Quarter 2009 Financial Results and Corporate Updates 2China Pharma Holdings, Inc. Reports Third Quarter 2009 Financial Results and Corporate Updates 3China Pharma Holdings, Inc. Reports Third Quarter 2009 Financial Results and Corporate Updates 4China Pharma Holdings, Inc. Reports Third Quarter 2009 Financial Results and Corporate Updates 5China Pharma Holdings, Inc. Reports Third Quarter 2009 Financial Results and Corporate Updates 6China Pharma Holdings, Inc. Reports Third Quarter 2009 Financial Results and Corporate Updates 7China Pharma Holdings, Inc. Reports Third Quarter 2009 Financial Results and Corporate Updates 8China Pharma Holdings, Inc. Reports Third Quarter 2009 Financial Results and Corporate Updates 9China Sky One Medical, Inc. Announces Conference Call to Discuss Third Quarter 2009 Results 2China Sky One Medical, Inc. Announces Conference Call to Discuss Third Quarter 2009 Results 3US Oncology Announces Retirement of General Counsel Phil Watts 2
... ChipReader systems are highly sensitive laser confocal ... These are advanced scanners that meet your ... background level, and optimizing the signal on ... end of the range for increased sensitivity. ...
Bio-Plex Manager software, version 3.0, 5 license netshare, is a five-user software package that provides access to data from the Bio-Plex suspension array system from a server. This version does not...
... of integrins in vascular proliferation, adhesion, and ... family of cell adhesion receptors consists of ... an a and b subunit that associate ... functional diversity of the integrin family are ...
... a cocktail of 3 siRNAs specifically targeted ... most popular product. The siTrio reagent guarantees ... your target gene when used under standard ... confirmation of optimal transfection with one of ...
Biology Products: